My name is Jaclyn and my husband is Brandon, we are the proud parents of two incredible little girls Ava (age 6) and Emma (age 2). Our life as parents has taken on a different role that we could have ever imagined it would. But constantly finding our “New Normal” has made us a stronger team. We share about Emma and her story on social media through facebook and Instagram. I also love to share more in-depth about Emma and her journey through a blog.
Welcome Jaclyn & Emma
Natalie: How did your journey begin with Emma?
Jaclyn: Emma was a full term c-section baby born on March 20, 2015. She brought so much happiness to our family after two miscarriages. The first few days were amazing we all got to bond as a family and big sister absolutely adored her. It was at four days old that I felt something was really wrong. I noticed she would scream upon waking up and then just shake for about a minute sometimes shorter. My husband was at work and I called him and asked him to come home on lunch because I was concerned about some movements Emma was making (I think he thought I was just a tired and crazy momma at that point).
Once he came home I showed him some videos I recorded and then he saw for himself and agreed we needed to take her to the doctor.
I was a complete mess. How could my perfect four day old be having seizure, why, why, why???
Our paediatrician told us to head straight to our local childrens hospital which we did. Once there they started running test after test and found nothing, even two failed spinal taps. Our hearts were breaking for our little newborn baby and her big sister that was once again away from us. There was an MRI scheduled for the next day and that is where we finally got our answers.
Natalie: What is the name of the condition(s) that Emma has? Can you share with us a little more about it?
Jaclyn: After the MRI Emma was diagnosed with Lissencephaly, a rare genetic brain disorder meaning smooth brain. So her brain is completely smooth like an egg, with no grooves and ridges like a typical brain. This disorder occurs in about 1 in 100,000 births. We found that Emma’s genetic deletion was a random mutation and not one that was carried by me or her father. She has a partial deletion on chromosome 17, PAFAH1B1.
Some of the other diagnosis that Emma suffers from due to Lissencephaly are epilepsy, severe developmental delays (stay between 3-5 months of age developmentally), high/low muscle tone or spasticity, CVI, reflux, silent aspiration (gtube), sensory processing disorder, GI issues, chronic lung issues, central sleep apnea, and currently closely watching her hips for hip dysplasia. We are in therapy weekly to help her in all these areas: physical, occupational, vision and speech.
We have found that life expectancy varies with different doctors and research when it comes to lissencephaly, but it seems to fall under the following:
If you make it to 1 that is incredible every year you get after that is awesome but don’t expect to make it pass 10. However, through social media we have found many many living proof that, this statement is not true, we have found many into their teens, twenties and even thirty. So life expectancy we say is unknown as it really is for all of us.
Natalie: What are some words to describe Emma? What do you love about her?
Jaclyn: Emma is the strongest person I know. Her eyes talk and say more than any words could ever say. She is so inspiring and has shown doctors stuff they never thought that they would see coming from her or anyone with the diagnosis of Lissencephaly. They have become some of her biggest cheerleaders.
Emma has been in a struggle the last few months and I see it in her eyes that she is still in there and wants to battle back again. We are starting to see glimpses of her again and we love that determination that she has about her. I love that even though she can’t talk, walk, crawl, jump, etc. she can reach a world full of people and show them how incredible she is. I am not a real public person but Emma has made me feel that I need to share her story.
What she has to “say” is important and I will never hold that back.
Natalie: What are your worries and wishes for Emma?
Jaclyn: I worry about illness and seizures a lot with Emma. Her immune system is so sensitive and I worry about what a little sickness to us can do to her. I worry about losing her daily to a seizure. My wish for Emma is that she is happy. Yes, I wish she could walk, talk, etc. but honestly I just hope and pray that she is happy and has a great quality of life.
Natalie: Siblings of children with additional needs are phenomenal in accepting differences, what have been some if your favourite moments or examples of this?
Jaclyn: As you will find on Emma’s facebook page and blog I share a lot about her big sister Ava. I am continually blown away by Ava and how she handles Emma and her diagnosis. We have been 100% honest with Ava about Emma and her diagnosis and what it means.
The only thing we haven’t been direct with is life expectancy, mostly because we don’t know. Doctors said we’d be lucky to make it to 1 and now she is 2.5 so we feel it’s not relevant to talk about when we don’t have a clear answer. But everything we do have a clear answer to we talk about. Ava knows how to handle seizures and care for gtube feedings. She loves being involved with drs and therapy appointments.
Natalie: I’m passionate about the special needs and self care connection. Raising a child with a diagnosis can bring some big challenges, how do you cope? Are there any self care practices that helped you on your journey? How do you deal with fear?
Jaclyn: The thing that is most therapeutic for me is writing and sharing Emma’s journey. Her blog has been my saving grace. It makes me feel as if all of this has a purpose. When I am contacted by other families going through similar feelings and emotions and they tell me I helped them to feel okay and normal.
It makes my day to know that our story has helped others get through their story.
The fear I have inside is a BEAST! I try to deal with it through love, faith and courage. The trust to know I am doing my best and Emma knows that and is ok with that.
Natalie: What advice would you give a mum who is beginning her journey after receiving her child’s diagnosis?
Jaclyn: Take things moment by moment, second by second. No one says you have to wrap your head around it all now. It will take time and you will find your “New Normal” and it will all fall into place perfectly. But I will warn you in the special needs world you will be finding that “New Normal” A LOT. But if you know that and prepare for that you will handle it all with pride and tears I wont lie.
Never let people pity you and tell you that they are sorry.
Because I am not sorry about Emma, I love Emma and I would not trade her for the world. The love the lessons she has brought into our lives. The person that my oldest daughter is going to be is someone I could have never made her into. The lessons she has learned as Emma’s big sister is something that can’t be taught in a classroom, it taught through love, compassion, and empathy.
Natalie: What are some lessons and blessings you have learnt since becoming Emma’s mum?
Jaclyn: Nothing stays the same for long so enjoy every second of it. Take lots of pictures and videos because when hard times come (and they will) it is nice to take a trip down memory lane and strive to get back to that happy smiling face.
Never give up!
Natalie: Do you have a favorite quote, prayer, or piece of miracle inspiration that you would like to leave us with?
Jaclyn: I would have to say EMBRACE LIFE…make every moment count and cherish it as if it were your last. You can never snuggle too much, so if you have that guilt that you should be working on holding that toy, tummy time, or sitting up, but you feel drained, never feel guilty to just snuggle and enjoy each other.
Therapy is great but not everything, take time to just be in the moment and hold each other.
If you would like to share your miracle moments and special needs journey, please get in touch here.
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